Abstract
Kennedy’s disease is an adult-onset, X-linked recessive trinucleotide, polyglutamine disorder, caused by expansion of a polymorphic CAG tandem-repeat in exon 1 of the androgen-receptor (AR) gene on chromosome Xq11-12. We report a case of 60 year old non-diabetic, normotensive, non-smoker, non-alcoholic male presenting with gradual onset and progressive difficulty in swallowing, nasal intonation of speech, generalized wasting and weakness with cramps and fasciculation without any sensory symptoms for around one year. Examination revealed gross emaciation, bilateral gynaecomastia, nasal speech with absent gag reflex, wasted and fasciculating tongue, wasted limb muscles with widespread fasciculation, bilateral postural tremor without any cognitive and sensory impairment. Investigation revealed elevated serum CPK. Electro-diagnostic (EDX) features are consistent with a slowly progressive and very chronic degeneration of the anterior horn cells and dorsal root ganglia (absent SNAP). MRI of the brain and cervical spine revealed no abnormality. Ultimately the genetic analysis confirmed the case as Kennedy’s disease.
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